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Background: The occurrence of widespread RNA and DNA sequence differences in the human transcriptome was reported in 2011. Similar findings were described in a second independent publication on personal omics profiling investigating the occurrence of dynamic molecular and related medical phenotypes. The suggestion that the RNA sequence variation was likely to affect disease susceptibility prompted us to investigate with a range of algorithms the amino acid variants reported to be present in the identified peptides to determine if they might be disease-causing. Results: The predictive qualities of the different algorithms were first evalu ated by using nonsynonymous single-base nucleotide polymorphism (nsSNP) datasets, using independently established data on amino acid variants in several proteins as well as data obtained by mutational mapping and modelling of binding sites in the human serotonin transporter protein (hSERT). Validation of the used predictive algorithms was at a 75% level. Using the same algorithms, we found that widespread RNA and DNA sequence differences were predicted to impair the func tion of the peptides in over 57% of cases. Conclusions: Our findings suggest that a proportion of edited RNAs which serve as templates for protein synthesis is likely to modify protein function, possibly as an adaptive survival mechanism in response to environmental modifications.

Exposure to ionizing radiation increases the incidence of acute myeloid leukemia (AML), which has been diagnosed in Japanese atomic bombing survivors, as well as patients treated with radiotherapy. The genetic basis for susceptibility to radiation-induced AML is not well characterized. We previously identified a candidate murine gene for susceptibility to radiation-induced AML (rAML): C-terminal binding protein (CTBP)-interacting protein (CTIP)/retinoblastoma binding protein 8 (RBBP8). This gene is essential for embryonic development, double-strand break (DSB) resection in homologous recombination (HR) and tumor suppression. In the 129S2/SvHsd mouse strain, a nonsynonymous single nucleotide polymorphism (nsSNP) in Ctip, Q418P, has been identified. We investigated the role of Q418P in radiation-induced carcinogenesis and its effect on CTIP function in HR. After whole-body exposure to 3 Gy of X rays, 11 out of 113 (9.7%) 129S2/SvHsd mice developed rAML. Furthermore, 129S2/SvHsd mouse embryonic fibroblasts (MEFs) showed lower levels of recruitment of HR factors, Rad51 and replication protein A (RPA) to radiation-induced foci, compared to CBA/H and C57BL/6 MEFs, isolated from rAML-sensitive and resistant strains, respectively. Mitomycin C and alpha particles induced lower levels of sister chromatid exchanges in 129S2/SvHsd cells compared to CBA/H and C57BL/6. Our data demonstrate that Q418P nsSNP influences the efficiency of CTIP function in HR repair of DNA DSBs in vitro and in vivo, and appears to affect susceptibility to rAML.

The popularity of ballroom dance has ebbed and flowed over the years. In this article we argue that the attitude Americans have toward ballroom dance reflects society’s acceptance and rejection of different expressions of femininity and masculinity. Although ballroom dance is predicated on rigid gender roles, its popularity has increased in the United States over the past few years. We use in-depth interviews and participant observation to explore how modern ballroom dancers express their masculinity and femininity on and off the dance floor. We find that men and women construct complex gender identities that are both traditional and progressive. Some are creating gender identities incorporating traditional and nontraditional traits. Our interviewees reinforced this gender complexity and showed that no one is bound to one standard of masculinity or femininity. Rather, each person is free to choreograph his or her own gender identity.

This article uses data from in-depth interviews conducted with the parents of a sample of 88 ninth-grade students from public, private, Catholic, and Christian high schools in two different suburban communities. This research investigates the ways in which parents understand education and how they make sense of schooling options for their children. It shows both how families who choose schools make the selection among various alternatives and why some families seem not to choose schools. This research finds that the financial and information resources of families are not enough in and of themselves to explain school-choice behavior. While these resources are indeed used by families as they make school choices, such measures do not capture the cultural dimension of school choice. In this context culture is understood as the lens through which people make sense of the social world. The decision to activate resources and the direction in which those resources will be activated are mediated by culture. In particular, as these school-choice stories show, the school-choice decision is influenced by the past educational experiences of the parents and by their religious faith.

The urban-high-school genre film has become one of Hollywood's most trusted formulas. In these films a classroom filled with socially troubled and low-achieving students is dramatically transformed by the singular efforts of a teacher or principal, an outsider who is new to the school and often new to teaching entirely. All of this is accomplished to the consternation of the inept administrative staff and other teachers, who never believed that these students had such potential. Invariably, the outsider succeeds where veteran professional teachers and administrators have repeatedly failed. I argue that the urban-high-school genre of film reinforces the “culture of poverty” thesis and represents the fantasies that suburban middle-class America has about life in urban high schools and the ease with which the problems in urban high schools could be rectified—if only the right type of person (a middle-class outsider) would apply the right methods (an unconventional pedagogy with a curriculum of middle-class norms and values). The teacher- or principal-hero represents middle-class hopes that the students in urban schools can be rescued from their troubled lives not through significant social change or school reform, but by the individual application of common sense, good behavior, a positive outlook, and better choices.

Background The identification of polymorphisms and/or genes responsible for an organism's radiosensitivity increases the knowledge about the cell cycle and the mechanism of the phenomena themselves, possibly providing the researchers with a better understanding of the process of carcinogenesis. Aim The aim of the study was to develop a data analysis strategy capable of discovering the genetic background of radiosensitivity in the case of small sample size studies. Results Among many indirect measures of radiosensitivity known, the level of radiation-induced chromosomal aberrations was used in the study. Mathematical modelling allowed the transformation of the yield-time curve of radiation-induced chromosomal aberrations into the exponential curve with limited number of parameters, while Gaussian mixture models applied to the distributions of these parameters provided the criteria for mouse strain classification. A detailed comparative analysis of genotypes between the obtained subpopulations of mice followed by functional validation provided a set of candidate polymorphisms that might be related to radiosensitivity. Among 1857 candidate relevant SNPs, that cluster in 28 genes, eight SNPs were detected nonsynonymous (nsSNP) on protein function. Two of them, rs48840878 (gene Msh3) and rs5144199 (gene Cc2d2a), were predicted as having increased probability of a deleterious effect. Additionally, rs48840878 is capable of disordering phosphorylation with 14 PKs. In silico analysis of candidate relevant SNP similarity score distribution among 60 CGD mouse strains allowed for the identification of SEA/GnJ and ZALENDE/EiJ mouse strains (95.26% and 86.53% genetic consistency respectively) as the most similar to radiosensitive subpopulation Conclusions A complete step-by-step strategy for seeking the genetic signature of radiosensitivity in the case of small sample size studies conducted on mouse models was proposed. It is shown that the strategy, which is a combination of mathematical modelling, statistical analysis and data mining methodology, allows for the discovery of candidate polymorphisms which might be responsible for radiosensitivity phenomena.

The aim of the study was to develop a data analysis strategy capable of discovering the genetic background of radiosensitivity. Radiosensitivity is the relative susceptibility of cells, tissues, organs or organisms to the harmful effect of radiation. Effects of radiation include the mutation of DNA specialy in genes responsible for DNA repair. Identification of polymorphisms and genes responsible for an organisms’ radiosensitivity increases the knowledge about the cell cycle and the mechanism of radiosensitivity, possibly providing the researchers with a better understanding of the process of carcinogenesis. To obtain this results, mathematical modeling and data mining methods were used.

Pro-drug forms of DTPA (diethylenetriaminepentaacetic acid), prepared by immobilising DTPA on various polysaccharides, polyvinylalcohol and silica, have proved to be of little value for mobilising intracellular 59Fe from alveolar macrophages radiolabelled by an in vivo process.

International audience; Successful geochemical modelling of the migration of radioactive materials, such as the transuranic elements, from nuclear waste repositories is dependent upon an understanding of their interaction with biogeopolymers such as humic acids, the most likely complexing agents in groundwaters. An established silica/humic acid composite has been evaluated as a model substrate for naturally occurring humate-coated minerals that are likely to be present in the vicinity of the repositories. The binding of Pu(IV), the highly likely oxidation station, by the silica/humic substrate was examined at pH 4 in the range 0.02 to 3.00M NaClO$_4$ by the titration method. Pu(IV)-humate conditional stability constants have been evaluated from data obtained from these experiments by using non-linear regression of binding isotherms. The results have been interpreted in terms of complexes of 1:1 stoichiometry. Analysis of the complex formation dependency with ionic strength shows that the effect of ionic strength on humate complexation of Pu(IV) is not dramatically pronounced. The complexation constants are evaluated for the humate interaction with Pu$^{4+}$ and Pu(OH)$_3^+$ at pH 4. The complexation constants are found, respectively, to be log$^{HA}$$\beta ^0$(Pu$^{4+}$)=16.6$\pm$0.3 and log$\beta ^0_{1.3.1}$=46.6$\pm$2.3. The estimations through analogy from previous results are in agreement with these new experimental data.

By determination of High Performance Liquid Chromatography (HPLC) capacity factors (k′), a comparison has been made of two new HPLC phases - physically and chemically immobilized humic acid - of their potential for determining soil adsorption coefficients (KOC) for organic pollutants. Log KOC values were estimated from log KOC versus log k′ calibration curves and were determined by using k′ and the humic acid content of the HPLC phases. These calculated log KOC values were compared with log KOC values taken from the literature.

This study in human volunteers was designed to compare the retention of diethylenetriaminepentaacetic acid (DTPA) in the body after intravenous (i.v.) injection with that following inhalation by using a 14C labelled tracer. After i.v. injection retention in the blood could be described by three exponential components with half-times of about 1.4 min (approximately 60%) 14.3 min (approximately 20%) and 95 min (approximately 20%). By 24 hr more than 99% of the 14C-DTPA had been excreted in the urine and less than 0.5% remained in the plasma. After inhalation of 14C-DTPA retention in the lungs could be represented by a single component with a half time of about 75 min. As a consequence the length of time that a therapeutically useful amount of DTPA is retained in the body is approximately twice that following intravenous injection.

The actinide cations Pu 4+ , Am 3+ and Cm 3+ , which are taken up onto the surface of bone, have been shown to be taken up from a metastable calcium phosphate solution by an insoluble lysozyme-inositol triphosphatide complex which is known to undergo calcification and become identical with apatite of biological origin. This interaction of these cations with a material which may be regarded as precursor of mineralized tissue could give some insight into the mechanism by which these cations are taken up by bone.